L20V (p.Leu20Val) variant of PTPN11 (Q06124)
L20V (p.Leu20Val) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- ExAC rs753951666
- gnomAD rs753951666
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.85
- MetaLR 0.98
- MetaSVM 1.05
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available